نتایج جستجو برای: brafv600e

تعداد نتایج: 835  

2011
M. Karafin G.I. Jallo M. Ayars C.G. Eberhart F.J. Rodriguez

Noonan syndrome, a distinctive syndrome characterized by dysmorphism, cardiac abnormalities and developmental delay, has been associated with a number of malignancies, however, only a few cases of primary glial or glioneuronal neoplasms have been reported. We report here the case of an 18-year-old with Noonan syndrome who developed a rosette forming glioneuronal tumor of the posterior fossa. Th...

Journal: :Investigative ophthalmology & visual science 2018
Jasmine H Francis Hans E Grossniklaus Larissa A Habib Brian Marr David H Abramson Klaus J Busam

Purpose To evaluate BRAF, NRAS, and GNAQ mutations in surgical specimens of common and blue conjunctival melanocytic nevi. Methods Surgical specimens from 25 conjunctival melanocytic nevi (23 common and 2 blue) of 25 patients were evaluated. All common nevi were analyzed immunohistochemically for the expression of BRAF V600E or NRAS Q61R. One lesion with negative immunoreactivity and for all ...

2015
Imke Satzger Lena Marks Martin Kerick Sven Klages Carola Berking Rudolf Herbst Bernward Völker Vivien Schacht Bernd Timmermann Ralf Gutzmer

BACKGROUND The detection of BRAFV600 mutations in patients with metastatic melanoma is important because of the availability of BRAF inhibitor therapy. However, the clinical relevance of the frequency of BRAFV600 mutant alleles is unclear. PATIENTS AND METHODS Allele frequencies of BRAFV600 mutations were analyzed by ultra-deep next-generation sequencing in formalin-fixed, paraffin-embedded m...

2017
Rocío Villar-Taibo Diego Peteiro-González José Manuel Cabezas-Agrícola Elvin Aliyev Francisco Barreiro-Morandeira Clara Ruiz-Ponte José M. Cameselle-Teijeiro

The tall cell variant (TCV) of papillary thyroid carcinoma (PTC) is characterized by tall columnar cells with a height of at least three times their width. TCV usually presents at an older age, has a larger size and exhibits more extrathyroidal extension and metastases than classical PTC. The current study compared TCV with the classical and follicular variants (CaFVs) of PTC to determine if, i...

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